What is sickle cell disease?

Sickle cell disease is a genetic red blood cell disorder. It changes normal, round red blood cells into cells shaped like crescent moons. The name "sickle cell" comes from the crescent shape of the cells. (A sickle is a tool with a crescent-shaped blade.)

Normal red blood cells move easily through your blood vessels, taking oxygen to every part of your body. But sickled cells can get stuck and block blood vessels, which stops the oxygen from getting through. That can cause a lot of pain. It can also harm organs, muscles, and bones.

Sickle cell disease can cause other health problems, such as infections, anemia, and stroke.

When a child is born with sickle cell disease, no one can predict which symptoms will appear, when they will start, or how bad they will be.

Painful events (sickle cell crises) in the hands or feet, belly, back, or chest are the most common symptom of sickle cell disease. They are periods of pain that happen when sickled cells get stuck in blood vessels and block the blood flow. This pain may last from hours to days.

Most people with sickle cell disease are anemic. Anemia can make you feel weak and tired. People with sickle cell anemia may look pale or washed out. They may be short of breath. Their skin and the whites of their eyes may have a yellowish look (jaundice).

Sickle cell disease is diagnosed when initial blood tests show abnormal hemoglobin. A sickle cell test looks for sickle cell trait and sickle cell disease.

The disease can be diagnosed soon after birth. A sample of blood is taken from the infant's heel. It's sent to a lab. There it is screened for the presence of sickle cell hemoglobin (hemoglobin S).

The disease may also be diagnosed based on the problems it can cause. More testing may be done if needed.

Doctors can diagnose sickle cell disease before a child is born (prenatally). Prenatal tests include amniocentesis and chorionic villus sampling (CVS).

Couples who are at risk for passing on this disease to their children may want to talk with a genetic counselor about prenatal testing before getting pregnant.

Medical treatment can help you manage pain and avoid other health problems from sickle cell disease.

Early treatment includes daily antibiotics from 2 months to 5 years of age to help prevent infections. Routine childhood and adult immunizations are also important. Your doctor may also suggest you take folic acid supplements.

Medicines that treat sickle cell disease include hydroxyurea and pain medicines. You may need a prescription for some of the medicines. Others you can buy over-the-counter. Pain medicine may work best when you also do other things to manage pain. You can prepare for painful events ahead of time by creating a pain management plan with your doctor.

Some people need regular blood transfusions to lower the risk of stroke and to treat anemia and other problems. Some people take prescription medicine, such as L-glutamine (Endari), to prevent problems. In rare cases, a stem cell transplant might be an option.

• Have your child take medicines exactly as prescribed. Call your doctor if you think your child is having a problem with a medicine.
• Give pain medicines exactly as directed.
  • If the doctor gave your child a prescription medicine for pain, give it as prescribed.
  • If your child is not taking a prescription pain medicine, ask your doctor if your child can take an over-the-counter medicine.
• Try to help ease pain by distracting your child. Have your child learn to use guided imagery, deep breathing, and relaxation exercises. A pain specialist can teach you and your child pain management skills.
• Dress your child warmly in cold weather. The cold and windy weather can lead to severe pain.
• Give your child lots of fluids.
• Keep your child away from smoke. Do not smoke or let anyone else smoke around your child or in your house.
• Make sure your child gets plenty of sleep.
• Make sure your child gets regular eye exams. Sickle cell disease can cause vision problems.
• Have your child wear medical alert jewelry that says that your child has sickle cell disease. You can buy this at most drugstores.
• Help your child avoid infections such as COVID-19, colds, and the flu. Remind your child to wash their hands often. Get your child a flu shot every year. Stay up to date on your child's COVID-19 vaccinations.
• Make sure your child gets a pneumococcal vaccine shot. This is a standard vaccine given to children starting at 2 months of age for a total of 4 shots. Your doctor can tell you if your child needs another shot.
• Make sure that your child takes antibiotics regularly until age 5. This is done to prevent infections.